ClinVar Miner

List of variants studied for Brugada syndrome by Illumina Laboratory Services, Illumina

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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.214-61250G>A rs10828545 0.40477
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23236
NM_201596.3(CACNB2):c.*16_*17insC rs753335762 0.00556
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00488
NM_201596.3(CACNB2):c.214-61251C>A rs117558767 0.00414
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_201596.3(CACNB2):c.*36del rs752637408 0.00070
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105 0.00027
NM_000335.5(SCN5A):c.*1673C>T rs886058443 0.00024
NM_201596.3(CACNB2):c.*758_*761dup rs780734976 0.00022
NM_000335.5(SCN5A):c.*1969C>T rs190416544 0.00020
NM_000335.5(SCN5A):c.3228+6C>G rs368048551 0.00019
NM_201596.3(CACNB2):c.*621_*622insCA rs564407056 0.00016
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_000719.7(CACNA1C):c.4727-9G>A rs757966245 0.00011
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_001040151.2(SCN3B):c.*4588T>C rs765294617 0.00006
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_001040151.2(SCN3B):c.*2366G>A rs867302682 0.00004
NM_000335.5(SCN5A):c.*945C>A rs886058450 0.00003
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 0.00003
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) rs760888275 0.00003
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_000335.5(SCN5A):c.*1731G>C rs569249327 0.00001
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=) rs781529391 0.00001
NM_000335.5(SCN5A):c.687T>C (p.Thr229=) rs770390440 0.00001
NM_000719.7(CACNA1C):c.*2288G>A rs554155021 0.00001
NM_000719.7(CACNA1C):c.-233C>T rs886049148 0.00001
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=) rs561224137 0.00001
NM_001040151.2(SCN3B):c.-326C>G rs886047906 0.00001
NM_005472.5(KCNE3):c.*38G>A rs764717543 0.00001
NM_015141.3(GPD1L):c.-132G>A rs886058331 0.00001
NM_000335.5(SCN5A):c.*1443C>A rs886058445
NM_000335.5(SCN5A):c.*1602G>T rs886058444
NM_000335.5(SCN5A):c.*1691G>T rs886058442
NM_000335.5(SCN5A):c.*1701G>T rs886058441
NM_000335.5(SCN5A):c.*1705C>T rs886058440
NM_000335.5(SCN5A):c.*1744C>G rs886058439
NM_000335.5(SCN5A):c.*1836A>T rs886058438
NM_000335.5(SCN5A):c.*1943C>A rs569552176
NM_000335.5(SCN5A):c.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1] rs45592631
NM_000335.5(SCN5A):c.*2149G>A rs114517792
NM_000335.5(SCN5A):c.*296G>A rs886058456
NM_000335.5(SCN5A):c.*516G>T rs886058454
NM_000335.5(SCN5A):c.*634C>A rs886058453
NM_000335.5(SCN5A):c.*6G>T rs776980213
NM_000335.5(SCN5A):c.*725C>A rs886058451
NM_000335.5(SCN5A):c.*73C>A rs886058458
NM_000335.5(SCN5A):c.*980C>A rs886058449
NM_000335.5(SCN5A):c.1870C>A (p.Leu624Ile) rs886058463
NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe) rs886058462
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000335.5(SCN5A):c.5942G>T (p.Arg1981Ile) rs774432823
NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu) rs886058459
NM_000719.7(CACNA1C):c.*1652GAATT[1] rs886049224
NM_000719.7(CACNA1C):c.*5421del rs10713809
NM_000719.7(CACNA1C):c.*652_*659GCC[2]GGGAAGGGGCCGCCGG[1] rs71057834
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=) rs756364065
NM_000719.7(CACNA1C):c.6235_6237del (p.Asp2079del) rs886049208
NM_001040151.2(SCN3B):c.*1007dup rs72553907
NM_001040151.2(SCN3B):c.*1948TATT[2] rs776449566
NM_001040151.2(SCN3B):c.*2795GAA[1] rs544984224
NM_001040151.2(SCN3B):c.*447C>A rs80017720
NM_001040151.2(SCN3B):c.-62del rs886047904
NM_005472.5(KCNE3):c.*1073AT[17] rs113583236
NM_005472.5(KCNE3):c.*1073AT[19] rs113583236
NM_005472.5(KCNE3):c.*1073AT[9] rs113583236
NM_005472.5(KCNE3):c.*1514_*1515dup rs41315535
NM_005472.5(KCNE3):c.*1515dup rs41315535
NM_005472.5(KCNE3):c.*909_*910del rs757362085
NM_005472.5(KCNE3):c.*919_*922dup rs60016728
NM_005472.5(KCNE3):c.*920_*922dup rs60016728
NM_005472.5(KCNE3):c.*923_*924insTTT rs886048651
NM_015141.4(GPD1L):c.*2347CT[1] rs537616228
NM_201596.3(CACNB2):c.*10_*11del rs886046886
NM_201596.3(CACNB2):c.*10del rs367928065
NM_201596.3(CACNB2):c.*124_*127dup rs886046891
NM_201596.3(CACNB2):c.*15dup rs886046887
NM_201596.3(CACNB2):c.*186_*189dup rs886046892
NM_201596.3(CACNB2):c.*41_*45dup rs758274878
NM_201596.3(CACNB2):c.*607_*608insAT rs886046898
NM_201596.3(CACNB2):c.*608_*609delinsAT rs886046899
NM_201596.3(CACNB2):c.*610AT[4] rs34551674
NM_201596.3(CACNB2):c.*610AT[8] rs34551674
NM_201596.3(CACNB2):c.*694del rs886046902
NM_201596.3(CACNB2):c.*786_*789dup rs1554843746
NM_201596.3(CACNB2):c.*790CTTGA[3] rs528559406
NM_201596.3(CACNB2):c.*835AAGT[3] rs547804393

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